PMID- 30736835
OWN - NLM
STAT- MEDLINE
DCOM- 20190419
LR  - 20200309
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 14
IP  - 1
DP  - 2019 Feb 8
TI  - Epidemiological and clinical characteristics of symptomatic hereditary 
      transthyretin amyloid polyneuropathy: a global case series.
PG  - 34
LID - 10.1186/s13023-019-1000-1 [doi]
LID - 34
AB  - We describe 542 cases of symptomatic hereditary transthyretin amyloid 
      polyneuropathy (ATTR-PN) identified through a review of the literature published 
      between 2005 and 2016. Approximately 18% of the cases were from countries where 
      ATTR-PN is traditionally considered to be endemic (i.e., Portugal, Japan, and 
      Sweden). East Asia (Japan, China, Taiwan, and South Korea) contributed a sizeable 
      combined proportion (37.0%, n = 200) with Japan (n = 92) and China (n = 71) being 
      the primary contributors. The most common genotypes among the 65 genotypes 
      represented in the sample were Val30Met (47.6%), Ser77Tyr (10%), Ala97Ser (6.5%), 
      and Phe64Leu (4.4%). Cases with genotypes other than the aforementioned four had 
      the lowest ages at onset (mean 49.2 [standard deviation SD 21.0; inter-quartile 
      range IQR14.7]) and diagnosis (mean 53.4 [SD 21.0; IQR 14.7]). Conversely, 
      Phe64Leu mean age of onset was 67.5 (SD 8.8; IQR 5.2) and mean age of diagnosis 
      was 71.3 (SD 8.8; IQR 5.4). The prevalence of upper and lower limb involvement at 
      the time of diagnosis (67 and 41%) observed across all cases is consistent with 
      the typical presentation of ATTR-PN. Other notable findings at the time of 
      diagnosis included a high rate of impotence among the Ala97Ser cases versus all 
      others (67% vs. 21%) and a high rate of non-motor visual symptoms (i.e., visual 
      opacities and glaucoma) in the Ser77Tyr cases versus all others (93% vs. 16%). 
      Though comparisons were made descriptively and were hindered by inconsistency of 
      reporting across the cases, these findings support the notion that ATTR-PN is a 
      more phenotypically and geographically variable disease than is typically 
      considered.
FAU - Waddington-Cruz, Marcia
AU  - Waddington-Cruz M
AD  - Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. 
      mwaddingtoncruz@gmail.com.
AD  - Hospital Universitario Clementino Fraga Filho (HUCFF), Universidade Federal do 
      Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil. mwaddingtoncruz@gmail.com.
FAU - Schmidt, Hartmut
AU  - Schmidt H
AD  - Muenster University Hospital, Muenster, Germany.
FAU - Botteman, Marc F
AU  - Botteman MF
AD  - Pharmerit International, Bethesda, MD, USA.
FAU - Carter, John A
AU  - Carter JA
AUID- ORCID: 0000-0001-8539-5352
AD  - BluePoint, LLC, Chicago, IL, USA.
FAU - Stewart, Michelle
AU  - Stewart M
AD  - Pfizer Inc., Groton, CT, USA.
FAU - Hopps, Markay
AU  - Hopps M
AD  - Pfizer Inc., New York, NY, USA.
FAU - Fallet, Shari
AU  - Fallet S
AD  - Pfizer Inc., New York, NY, USA.
FAU - Amass, Leslie
AU  - Amass L
AD  - Pfizer Inc., Collegeville, PA, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20190208
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
SB  - IM
MH  - Amyloid Neuropathies, Familial/*epidemiology/genetics/pathology
MH  - Humans
MH  - Mutation/genetics
MH  - Polyneuropathies/*epidemiology/genetics/pathology
MH  - Rare Diseases/epidemiology/genetics/pathology
PMC - PMC6368811
OTO - NOTNLM
OT  - Case series
OT  - Peripheral neuropathy
OT  - Rare disease
OT  - Transthyretin amyloidosis
COIS- AUTHORS' INFORMATION: MWC is Chief of the Neuromuscular Diseases Unit at the 
      University Hospital, Federal University of Rio, Brazil; and has been overseeing 
      the Familial Amyloid Polyneuropathy patient care clinic (CEPARM) at the hospital 
      for over 20 years. MWC also serves as the chair of the Transthyretin Amyloidosis 
      Outcomes Survey (THAOS). ETHICS APPROVAL AND CONSENT TO PARTICIPATE: Not 
      Applicable. CONSENT FOR PUBLICATION: Not Applicable. COMPETING INTERESTS: MS, MH, 
      and LA are employees of Pfizer Inc. SF was an employee of Pfizer Inc. at the time 
      this research was conducted. MFB is an employee of Pharmerit International, which 
      received funding from Pfizer Inc. for study design, execution, analysis, and 
      manuscript development. ASC was an employee of Pharmerit International at the 
      time this research was conducted. JAC is an independent scientific consultant 
      funded by Pharmerit International. HS and MWC were investigators for the study 
      and were not financially compensated for collaborative efforts on 
      publication-related activities. HS received support from FoldRx Pharmaceuticals, 
      which was acquired by Pfizer Inc. in October 2010, as a clinical investigator. 
      MWC received support from FoldRx Pharmaceuticals, which was acquired by Pfizer 
      Inc. in October 2010, as a clinical investigator; has served on the scientific 
      advisory board of Pfizer Inc.; received funding from Pfizer Inc. for scientific 
      meeting expenses (travel, accommodations, and registration); and received 
      research support from the National Institutes of Health. She currently serves on 
      the THAOS (natural history disease registry) scientific advisory board. 
      PUBLISHER'S NOTE: Springer Nature remains neutral with regard to jurisdictional 
      claims in published maps and institutional affiliations.
EDAT- 2019/02/10 06:00
MHDA- 2019/04/20 06:00
PMCR- 2019/02/08
CRDT- 2019/02/10 06:00
PHST- 2018/03/30 00:00 [received]
PHST- 2019/01/08 00:00 [accepted]
PHST- 2019/02/10 06:00 [entrez]
PHST- 2019/02/10 06:00 [pubmed]
PHST- 2019/04/20 06:00 [medline]
PHST- 2019/02/08 00:00 [pmc-release]
AID - 10.1186/s13023-019-1000-1 [pii]
AID - 1000 [pii]
AID - 10.1186/s13023-019-1000-1 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2019 Feb 8;14(1):34. doi: 10.1186/s13023-019-1000-1.